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Rare Diseases under letter "T"
Tabatznik syndrome ↗ TAC ↗ Tachycardia - hypertension - microphthalmos - hyperglycinuria ↗ TACI-related selective deficiency of IgA ↗ Takatsuki syndrome ↗ Takayasu arteritis ↗ Takotsubo cardiomyopathy ↗ Tako-Tsubo cardiomyopathy ↗ Takotsubo syndrome ↗ Tako-tsubo syndrome ↗ TALDO ↗ Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava ↗ T-ALL ↗ Talo-patello-scaphoid osteolysis ↗ Tang-Hsi-Ryu syndrome ↗ Tangier disease ↗ Tardive dyskinesia ↗ Tardive tibial muscular dystrophy ↗ TARP syndrome ↗ Tarsal-carpal coalition syndrome ↗ TAR syndrome ↗ Tarui disease ↗ Tattoo dysplasia ↗ Taurodontia - absent teeth - sparse hair ↗ Taurodontism ↗ Taussig-Bing syndrome ↗ Taybi-Linder syndrome ↗ Taybi syndrome ↗ Tay-Sachs disease ↗ Tay syndrome ↗ T-cell chronic lymphocytic leukemia ↗ T-cell diffuse large cell lymphoma ↗ T-cell immunoblastic lymphoma ↗ T-cell large granular lymphocyte leukemia ↗ T-cell LGL leukemia ↗ T-cell prolymphocytic leukemia ↗ TCP ↗ TDO syndrome ↗ Teebi-Al saleh-Hassoon syndrome ↗ Teebi hypertelorism syndrome ↗ Teebi-Kaurah syndrome ↗ Teebi-Naguib-Alawadi syndrome ↗ Teebi-Shaltout syndrome ↗ Teebi syndrome ↗ Telangiectasia macularis eruptiva perstans ↗ Telecanthus - hypertelorism - strabismus - pes cavus ↗ Telfer-Sugar-Jaeger syndrome ↗ Tel Hashomer camptodactyly syndrome ↗ Telomeric 13q deletion ↗ Telomeric 15q deletion ↗ Telomeric 17q deletion ↗ Telomeric 5q deletion ↗ Telomeric deletion 10p ↗ Telomeric deletion 10q ↗ Telomeric deletion 11q ↗ Telomeric deletion 12q ↗ Telomeric deletion 14q ↗ Telomeric deletion 16p ↗ Telomeric deletion 17p ↗ Telomeric deletion 19p ↗ Telomeric deletion 1q ↗ Telomeric deletion 20q ↗ Telomeric deletion 4p ↗ Telomeric deletion 4q ↗ Telomeric deletion 7p ↗ Telomeric deletion 7q36 ↗ Telomeric deletion 8p ↗ Telomeric deletion 9p ↗ Telomeric duplication 10q ↗ Telomeric duplication 11q ↗ Telomeric duplication 13q ↗ Telomeric duplication 14q ↗ Telomeric duplication 15q ↗ Telomeric duplication 16p ↗ Telomeric duplication 16q ↗ Telomeric duplication 17q ↗ Telomeric duplication 18q ↗ Telomeric duplication 19q ↗ Telomeric duplication 1p36 ↗ Telomeric duplication 20q ↗ Telomeric duplication 22q ↗ Telomeric duplication 2p ↗ Telomeric duplication 2q ↗ Telomeric duplication 3p ↗ Telomeric duplication 4p ↗ Telomeric duplication 4q ↗ Telomeric duplication 5q ↗ Telomeric duplication 6p ↗ Telomeric duplication 6q ↗ Telomeric duplication 7p ↗ Telomeric duplication 8q ↗ Telomeric duplication 9q ↗ Telomeric duplication Xq ↗ Telomeric monosomy 3p ↗ TEMF ↗ Temperature-sensitive oculocutaneous albinism ↗ Temporal arteritis ↗ Temtamy-Shalash syndrome ↗ Temtamy syndrome ↗ TEN ↗ Teratoma of the central nervous system ↗ Teratoma of the nasopharynx ↗ Ter Haar syndrome ↗ Terminal osseous dysplasia - pigmentary defects ↗ Terminal transverse defects of arm ↗ Tessier number 1 cleft ↗ Tessier number 4 facial cleft ↗ Tessier number 5 facial cleft ↗ Tessier number 6 facial cleft ↗ Testicular feminization syndrome ↗ Testicular regression syndrome ↗ Testicular seminoma ↗ Testotoxicosis ↗ Tetanus ↗ Tetraamelia - multiple malformations ↗ Tetragametic chimerism ↗ Tetralogy of Fallot ↗ Tetramelic monodactyly ↗ Tetraploidy ↗ Tetrasomy 12p ↗ Tetrasomy 18p ↗ Tetrasomy 21 ↗ Tetrasomy 5p ↗ Tetrasomy 9p ↗ Tetrasomy X ↗ Tetra X ↗ Teunissen-Cremers syndrome ↗ TFR2-related hemochromatosis ↗ TGA with cardiac malformation ↗ TGA with coarctation ↗ Thakker-Donnai syndrome ↗ Thalidomide embryopathy ↗ Thanatophoric dwarfism ↗ Thanatophoric dwarfism - cloverleaf skull ↗ Thanatophoric dwarfism type I ↗ Thanatophoric dwarfism type II ↗ Thanatophoric dysplasia ↗ Thanatophoric dysplasia, Glasgow variant ↗ Theca (steroid-producing) cell cancer, not further specified ↗ Theca steroid-producing cell malignant tumor, not further specified ↗ Theodore's superior limbic keratoconjunctivitis ↗ Theodore's syndrome ↗ Thiamine-responsive encephalopathy ↗ Thiamine-responsive megaloblastic anemia syndrome ↗ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness ↗ Thiamin-responsive BCKD deficiency ↗ Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency ↗ Thiamin-responsive branched-chain ketoaciduria ↗ Thiamin-responsive leucinosis ↗ Thiamin-responsive maple syrup urine disease ↗ Thiamin-responsive MSUD ↗ Thickened earlobes - conductive deafness ↗ Thiele syndrome ↗ Thiemann disease, familial form ↗ Thies-Reis syndrome ↗ Thin ribs - tubular bones - dysmorphism ↗ Thiolase deficiency ↗ Thiopurine S-methyltransferase deficiency ↗ Third branchial cleft anomaly ↗ Third branchial cleft cyst ↗ Third branchial cleft fistula ↗ Thomas-Jewett-Raines syndrome ↗ Thomas syndrome ↗ Thomas type SCA3 ↗ Thomsen and Becker disease ↗ Thomson-Baraitser syndrome ↗ Thong-Douglas-Ferrante syndrome ↗ Thoracic dysplasia-hydrocephalus syndrome ↗ Thoracic outlet syndrome ↗ Thoraco-abdominal enteric duplication ↗ Thoraco-abdominal syndrome ↗ Thoracolaryngopelvic dysplasia ↗ Thoracolumbosacral spina bifida aperta ↗ Thoracolumbosacral spina bifida cystica ↗ Thoracomelic dysplasia ↗ Thost-Unna palmoplantar keratoderma ↗ Thromboangiitis obliterans ↗ Thrombocytopathy - asplenia - miosis ↗ Thrombocytopenia - absent radius ↗ Thrombocytopenia - Robin sequence ↗ Thrombocytopenic purpura, autoimmune ↗ Thrombotic thrombocytopenic purpura ↗ THR resistance syndrome ↗ TH-SHFM ↗ Thumb absence - hypoplastic halluces ↗ Thumb deformity - alopecia - pigmentation anomaly ↗ Thumb polydactyly ↗ Thumb stiffness - brachydactyly - intellectual deficit ↗ Thurston syndrome ↗ Thymic aplasia ↗ Thymic carcinoma ↗ Thymic endocrine tumor ↗ Thymic epithelial neoplasm ↗ Thymic epithelial tumor ↗ Thymic neuroendocrine carcinoma ↗ Thymic neuroendocrine tumor ↗ Thymic-renal-anal-lung dysplasia ↗ Thymoma ↗ Thymoma-immunodeficiency ↗ Thymoma type A ↗ Thymoma type AB ↗ Thymoma type B ↗ Thyrocerebrorenal syndrome ↗ Thyroglossal duct cyst ↗ Thyroglossal tract cyst ↗ Thyroid dyshormonogenesis ↗ Thyroid ectopia ↗ Thyroid hemiagenesis ↗ Thyroid hypoplasia ↗ Thyroid lymphoma ↗ Thyroid-renal-digital anomalies ↗ Thyrotoxic hypokalemic periodic paralysis ↗ Thyrotoxic periodic paralysis ↗ Thyrotroph adenoma ↗ Tibial aplasia - ectrodactyly ↗ Tibial hemimelia ↗ Tibial hemimelia - clubfoot ↗ Tibial hemimelia-ectrodactyly syndrome ↗ Tibial hemimelia with split hand/foot malformation ↗ Tibial muscular dystrophy ↗ Tibia vara Blount ↗ Tic douloureux ↗ Tick-borne encephalitis ↗ Tietz syndrome ↗ Timothy syndrome ↗ TINU syndrome ↗ TMCO1 defect syndrome ↗ TNDM ↗ TNF receptor 1 associated periodic syndrome ↗ Tolosa-Hunt syndrome ↗ Toluene antenatal infection ↗ Toluene embryopathy ↗ Tomaculous neuropathy ↗ Tomé-Brunet-Fardeau syndrome ↗ Tonoki-Ohura-Niikawa syndrome ↗ Tooth and nail syndrome ↗ Torg-Winchester syndrome ↗ Toriello-Carey syndrome ↗ Toriello-Higgins-Miller syndrome ↗ Toriello-Lacassie-Droste syndrome ↗ Toriello syndrome ↗ Torres-Aybar syndrome ↗ Torsade-de-pointes syndrome with short coupling interval ↗ Torticollis - keloids - cryptorchidism - renal dysplasia ↗ TOS ↗ Total congenital cataract ↗ Total intestinal aganglionosis ↗ Total septate uterus ↗ Total spina bifida aperta ↗ Total spina bifida cystica ↗ Touraine-Solente-Gole syndrome ↗ Townes-Brocks syndrome ↗ Toxic epidermal necrolysis ↗ Toxic epidermolysis ↗ Toxic maculopathy due to antimalarial drugs ↗ Toxic oil syndrome ↗ Toxocariasis ↗ Toxoplasma embryopathy ↗ TPHA ↗ TPT-PS syndrome ↗ Tracheal agenesis ↗ Tracheobronchomegaly ↗ Tracheobronchopathia osteochondroplastica ↗ Tracheo-esophageal fistula - hypospadias ↗ Trache-oesophageal fistula - symphalangism ↗ Tracheopathia osteoplastica ↗ Tranebjaerg-Svejgaard syndrome ↗ Transaldolase deficiency ↗ Transcobalamin II deficiency ↗ Transcortin deficiency ↗ Transient acquired pure red cell aplasia ↗ Transient bullous dermolysis of the newborn ↗ Transient congenital hypothyroidism ↗ Transient erythroblastopenia of childhood ↗ Transient familial neonatal hyperbilirubinemia ↗ Transient hypogammaglobulinemia of infancy ↗ Transient left ventricular apical ballooning syndrome ↗ Transient neonatal arthrogryposis ↗ Transient neonatal cyanosis and anemia due to Toms River Hemoglobin ↗ Transient neonatal diabetes mellitus ↗ Transient pseudohypoaldosteronism ↗ Transitional cell carcinoma of the corpus uteri ↗ Transitional PMD ↗ Transmissible spongiform encephalopathies ↗ Transthyretin amyloid cardiopathy ↗ Transthyretin amyloid neuropathy ↗ Transthyretin amyloid polyneuropathy ↗ Transthyretin-related familial amyloid cardiomyopathy ↗ Transverse limb deficiency - hemangioma ↗ Transverse vaginal septum ↗ TRAPS syndrome ↗ Treacher-Collins syndrome ↗ Treatment of aspiration pneumotitis requiring intubation and mechanical ventilation ↗ Treatment of cardiogenic shock ↗ Treft-Sanborn-Carey syndrome ↗ Tremor - nystagmus - duodenal ulcer ↗ Trench fever ↗ Trevor disease ↗ Triangular tibia - fibular aplasia ↗ Triatrial heart ↗ Trichinellosis ↗ Trichinosis ↗ Trichodental syndrome ↗ Tricho-dento-osseous syndrome ↗ Trichodermal syndrome - intellectual deficit ↗ Trichodermodysplasia - dental alterations ↗ Trichodysplasia - amelogenesis imperfecta ↗ Trichodysplasia - xeroderma ↗ Trichofolliculoma ↗ Tricho-hepato-enteric syndrome ↗ Trichomalacia ↗ Trichomegaly - cataract - hereditary spherocytosis ↗ Trichomegaly - retina pigmentary degeneration - dwarfism ↗ Tricho-oculo-dermo-vertebral syndrome ↗ Tricho-odonto-onychial dysplasia ↗ Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region ↗ Tricho-odonto-onycho-dermal syndrome ↗ Tricho-odonto-onychodysplasia - dominant syndactyly ↗ Trichopoliodystrophy ↗ Tricho-retino-dento-digital syndrome ↗ Trichorhinophalangeal syndrome type 1 and 3 ↗ Trichorhinophalangeal syndrome type 2 ↗ Trichorrhexis nodosa syndrome ↗ Trichostasis spinulosa ↗ Trichothiodystrophy ↗ Trichothiodystrophy - neurocutaneous syndrome ↗ Trichothiodystrophy - osteosclerosis ↗ Trichothiodystrophy - sun sensitivity ↗ Trichothiodystrophy type B ↗ Trichothiodystrophy type C ↗ Trichothiodystrophy type D ↗ Trichothiodystrophy type E ↗ Trichothiodystrophy type F ↗ Trichothiodystrophy type G ↗ Trichothiodystrophy with congenital ichthyosis ↗ Tricuspid atresia ↗ Tricuspid valve agenesis ↗ Tricuspid valve prolapse ↗ Trigeminal autonomic cephalalgia ↗ Trigeminal neuralgia ↗ Trigonocephaly - bifid nose - acral anomalies ↗ Trigonocephaly - broad thumbs ↗ Trigonocephaly C syndrome ↗ Trigonocephaly - short stature - developmental delay ↗ Trimethadione antenatal infection ↗ Trimethylaminuria ↗ Triopia ↗ Triose phosphate-isomerase deficiency ↗ Triphalangeal thumb - polysyndactyly syndrome ↗ Triphalangeal thumbs - brachyectrodactyly ↗ Triphalangeal thumbs - dislocation of patella ↗ Triple A syndrome ↗ Triple H syndrome ↗ Triple X ↗ Triploidy ↗ Triplo-X ↗ Trismus - pseudocamptodactyly ↗ Trisomie 3q26 ↗ Trisomy 10p ↗ Trisomy 10q22.3q23.3 ↗ Trisomy 10qter ↗ Trisomy 11qter ↗ Trisomy 13 ↗ Trisomy 13qter ↗ Trisomy 14q11.2 ↗ Trisomy 14qter ↗ Trisomy 15q11q13 ↗ Trisomy 15q11-q13 ↗ Trisomy 15qter ↗ Trisomy 16p11.2 ↗ Trisomy 16p13.11 ↗ Trisomy 16pter ↗ Trisomy 16qter ↗ Trisomy 17p ↗ Trisomy 17p11.2 ↗ Trisomy 17p13.3 ↗ Trisomy 17q11.2 ↗ Trisomy 17q12 ↗ Trisomy 17q21.31 ↗ Trisomy 17qter ↗ Trisomy 18 ↗ Trisomy 18p ↗ Trisomy 18qter ↗ Trisomy 19qter ↗ Trisomy 1pter ↗ Trisomy 1q ↗ Trisomy 1q21.1 ↗ Trisomy 20p ↗ Trisomy 20qter ↗ Trisomy 21 ↗ Trisomy 22q11.2 ↗ Trisomy 22qter ↗ Trisomy 2pter ↗ Trisomy 2qter ↗ Trisomy 3pter ↗ Trisomy 3q26 ↗ Trisomy 3q29 ↗ Trisomy 4p ↗ Trisomy 4pter ↗ Trisomy 4q ↗ Trisomy 4qter ↗ Trisomy 5p ↗ Trisomy 5q35 ↗ Trisomy 5qter ↗ Trisomy 6pter ↗ Trisomy 6qter ↗ Trisomy 7pter ↗ Trisomy 8p ↗ Trisomy 8p23.1 ↗ Trisomy 8q ↗ Trisomy 8q12 ↗ Trisomy 8qter ↗ Trisomy 9p ↗ Trisomy 9qter ↗ Trisomy X ↗ Trisomy Xp11.22-p11.23 ↗ Trisomy Xq27.3q28 ↗ Trisomy Xq27.3-q28 ↗ Trisomy Xq28 ↗ Tritan colour blindness ↗ Tritanopia ↗ TRMA ↗ tRNA-LYS-related cardiomyopathy - hearing loss ↗ Trochlear dysplasia ↗ Tropical calcific chronic pancreatitis ↗ Tropical endomyocardial fibrosis ↗ Tropical pancreatitis ↗ Troyer syndrome ↗ TRS ↗ Trueb-Burg-Bottani syndrome ↗ True hermaphrodism ↗ True neurogenic thoracic outlet syndrome ↗ True unicornuate uterus ↗ True vascular thoracic outlet syndrome ↗ Truncal dystonia ↗ Truncus arteriosus ↗ Tsao-Ellingson syndrome ↗ Tsukahara-Kajii syndrome ↗ Tsukahara syndrome ↗ Tsutsugamushi disease ↗ Tsutsugamushi fever ↗ TTP ↗ TTR amyloid neuropathy ↗ TTR-related amyloid cardiomyopathy ↗ TTR-related cardiac amyloidosis ↗ Tuberculosis ↗ Tuberous sclerosis ↗ Tuberous sclerosis complex ↗ Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome ↗ Tubular aggregate myopathy ↗ Tubular duplication of the esophagus ↗ Tubular renal disease - cardiomyopathy ↗ Tubulocystic carcinoma ↗ Tubulointerstitial nephritis and uveitis syndrome ↗ Tucker syndrome ↗ Tufted angioma ↗ Tufting enteropathy ↗ Tularemia ↗ Tumoral calcinosis ↗ Tumor necrosis factor receptor 1 associated periodic syndrome ↗ Tungiasis ↗ Tungland-Bellman syndrome ↗ Tunnel subaortic stenosis ↗ Turban tumor syndrome ↗ 'Turban tumor' syndrome ↗ Turcot syndrome with polyposis ↗ Turner-Kieser syndrome ↗ Turner syndrome ↗ Turricephaly ↗ Twenty-nail dystrophy ↗ Twin to twin transfusion syndrome ↗ Twisted atrioventricular connections ↗ Twisted hair ↗ Tylosis - oesophageal carcinoma ↗ Type 0a glycogenosis ↗ Type 0b glycogenosis ↗ Type 14 glycogenosis ↗ Type 15 glycogenosis ↗ Type 1C glycogenosis ↗ Type 1D glycogenosis ↗ Type 1 glycogenosis ↗ Type 2 glycogenosis ↗ Type 3 glycogenosis ↗ Type 3 SMA ↗ Type 4 glycogenosis ↗ Type 5 glycogenosis ↗ Type 7 glycogenosis ↗ Type 7 syndactyly ↗ Type Ia glycogenosis ↗ Type Ib glycogenosis ↗ Type I CCAM ↗ Type II CCAM ↗ Type II connatal Pelizaeus-Merzbacher disease ↗ Type III CCAM ↗ Type XV glycogenosis ↗ Typhoid ↗ Typical hemolytic uremic syndrome ↗ Typical nemaline myopathy ↗ Typical phenylketonuria ↗ Typical PKU ↗ Tyrosinase-negative oculocutaneous albinism ↗ Tyrosinase-positive oculocutaneous albinism ↗ Tyrosine hydroxylase deficiency ↗ Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency ↗ Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency ↗ Tyrosinemia due to HPD deficiency ↗ Tyrosinemia due to TAT deficiency ↗ Tyrosinemia due to tyrosine aminotransferase deficiency ↗ Tyrosinemia type 1 ↗ Tyrosinemia type 2 ↗ Tyrosinemia type 3 ↗ Tyrosinemia type II ↗ Tyrosinemia type III ↗ Tyrosine oxidase temporary deficiency ↗